WALTHAM, Mass.--(BUSINESS WIRE)--Sobi, an international biopharmaceutical company transforming the lives of people affected by rare diseases, presented an update on the state of newborn screening for Hereditary Tyrosinemia Type 1 (HT-1) in the United States during the Association of Public Health Laboratories’ (APHL) 2019 Newborn Screening and Genetic Testing Symposium, April 7-10 in Chicago.
HT-1 is an extremely rare but treatable hereditary disorder. If untreated, it can cause liver, renal and neurological complications.1 Newborn screening is essential to rapid diagnosis of HT-1, so that treatment can begin prior to significant disease progression, and HT-1 is included in the U.S. Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP).2 While elevated tyrosine was traditionally used as a diagnostic marker for HT-1, it has been shown not to be sufficiently specific nor sensitive for HT-1 detection and can yield false positive and false negative results.3 Succinylacetone (SUAC) is recognized in the consensus guidelines for diagnosis and treatment of HT-1 as a more sensitive and specific diagnostic marker for the disease, and is recommended as the primary diagnostic marker.4
A 2015 Sobi-sponsored study showed 78% (39 of 50) of states used SUAC as a primary marker for HT-1 newborn screening.5 The new data presented at the APHL symposium found that progress has been made in the past three years, with 92% (46 of 50) of states implementing the use of SUAC for HT-1 detection in 2018. Of the remaining four states still using tyrosine for detection (New Jersey, Maryland, Oklahoma and West Virginia), all are attempting to implement SUAC detection tests in the next year.
“Sobi has supported the HT-1 community for almost 25 years,” said Carol Satler, M.D., Ph.D., Vice President of Medical Affairs at Sobi North America, and an author on the poster presented at APHL. “Our investment into research around the diagnosis of HT-1 is one of many ways we seek to optimize outcomes for this community, and we are very pleased to see that efforts by our team and others to advocate for SUAC testing over the past several years are having an impact.”
“The HT-1 community applauds the states that have made SUAC the primary marker for HT-1 detection in their newborn screening programs, moving us closer toward the goal of catching this disease before it puts infants at risk for their lives or causes irreversible harm,” said Jon Miller, President and Founder of the Network of Tyrosinemia Advocates (NOTA), an organization dedicated to making a difference in the lives of those impacted by HT-1. “While this progress is encouraging, there is still work to be done to ensure we never miss a child’s diagnosis ever again. One missed diagnosis is too many.”
The data were presented in a poster titled “Update on the State of Newborn Screening for Hereditary Tyrosinemia Type 1 (HT-1) in the United States,” (P-159); authored by A. Compton, Pharm.D., B. Filas, Ph.D., and C. Satler, M.D., Sobi, Inc. Details can be accessed at the APHL website: https://www.aphl.org/conferences/NBS-Symposiums/Documents/Poster-abstracts-web-2-26.pdf.
About hereditary tyrosinemia (HT-1)
Hereditary tyrosinemia
type 1 (HT-1) is an extremely rare but treatable hereditary disorder.
When a child has HT-1, their body lacks the enzymes needed to break down
the amino acid tyrosine. High levels of tyrosine can build up in the
blood and form toxic substances in the liver, kidneys and central
nervous system, which can cause liver, renal and neurological
complications. Approximately 1,000 persons worldwide are identified as
living with HT-1 today.
About Sobi in North America
As the North American affiliate
of international biopharmaceutical company Sobi™, our team is committed
to Sobi’s vision of providing sustainable access to innovative therapies
and transforming the lives of people affected by rare diseases. We bring
something rare to rare diseases – a belief in the strength of focus, the
power of agility and the potential of the people we are dedicated to
serving. Our product portfolio includes multiple approved treatments,
focused on immunology and genetics/metabolism. With North American
headquarters in the Boston area, Canadian headquarters in the Toronto
area, and field sales, medical and market access representatives
spanning North America, our growing team has a proven track record of
commercial excellence. More information is available at www.sobi-northamerica.com.
For more information about Sobi, visit www.sobi.com.
References:
- National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/tyrosinemia-type-1/
- HHS Health Resources and Services Administration: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html
- de Laet et al.: Recommendations for the management of tyrosinaemia type 1. Orphanet Journal of Rare Diseases 2013, 8:8.
- 2013 8:8 Genet Med. 2017 Dec;19(12). https://www.ncbi.nlm.nih.gov/pubmed/28771246
- Yeh M, et al. The state of newborn screening for hereditary tyrosinemia type-1 (HT-1) in the United States in 2015. Paper presented at: 39th Annual Meeting of the Society for Inherited Metabolic Disorders; April 3-6 2016; Ponte Vedra Beach, FL.
